Patients with CaV2.1 channelopathies face severe and often debilitating symptoms, such as seizures, migraines, tremors, and ...

Researchers have created the first complete map showing how hundreds of mutations in a key cancer gene affect tumor growth.

Researchers from the Center for Soft and Living Matter within the Institute for Basic Science (South Korea), recently explored the limits of AlphaFold2 AI’s ability to predict protein structures.

Every organism's genome contains mutations that often have unknown biological effects. In partnership with Stanford University, researchers at Charité—Universitätsmedizin Berlin have now discovered a ...

Researchers found a way to screen cancer-linked gene mutations much more easily and quickly than existing approaches, using a variant of CRISPR genome-editing known as prime editing. Tumors can carry ...

The neurodevelomental disease Rett syndrome is usually caused by mutations in a gene called MECP2, which is located on the X chromosome. Patients lose coordination, mobility, and their ability to ...

A new report found only about 2.8% of people with myelodysplastic syndromes (MDS) have JAK2 mutations. A new report is shining a light on an uncommon—but potentially meaningful—characteristic of some ...

Researchers at Gladstone Institutes have discovered that a rare genetic variant known as the "Christchurch mutation" can block detrimental effects of apolipoprotein E4, the best-established risk ...